Genetic TestsLysosomal Storage Diseases Gene Panel

• Test Name: Lysosomal Storage Diseases Gene Panel
• Test Code: 4692

• “Lysosomal acid phosphatase deficiency (ACPHD),Aspartylglucosaminuria (AGU), Metachromatic leukodystrophy,Mucopolysaccharidosis Type VI, Multiple sulfatase deficiency, Farber lipogranulomatosis,Chitotriosidase deficiency (with Gaucher 1), Cystinosis, Galactosialidosis, Fucosidosis, Pompe disease-glycogen storage disease type II, Krabbe disease, Mucopolysaccharidosis Type IVA, Morquio A, Gaucher Disease, Alexander disease, Fabry disease, Mucopolysaccharidosis type IVB-MorquioB, GM2-gangliosidosis, AB variant, Mucolipidosis II, and III, Mucolipidosis III gamma, Mucopolysaccharidosis type IIID Sanfilippo D, Mucopolysaccharidosis type VII, Tay-Sachs disease, Sandhoff disease, Mucopolysaccharidosis type IIIC (Sanfilippo), Mucopolysaccharidosis type IX: Hyaluroindase deficiency, Mucopolysaccharidosis type II Hunter disease, Mucopolysaccharidosis type I (Hurler/Scheie), Glycogen Storage Disease Type IIB-Danon Disease, Lysosomal acid lipase deficiency/Wolman disease, Alpha-mannosidase deficiency, Beta-mannosidosis, Mucolipidosis type IV, Schindler disease, Mucopolysaccharidosis Type IIIB, Sialidosis, Niemann-Pick type C1 , C2, and C3, Prosaposin Deficiency , Mucopolysaccharidosis Type IIIA Sanfilippo, Sialic acid storage disease, Niemann-Pick type A/B,Multiple Sulfatase Deficiency” (OMIM #: 200950 208400 250100 253200 300586 228000 600031 614122 219800 256540 230000 232300 245200 612222 230800 230900 231000 203450 301500 253010 272750 252500 252600 232605 252940 253220 272800 268800 252930 601492 309900 607014 300257 278000 248500 248510 252650 609241 252920 256550 257220 607625 611721 610539 611722 249900 252900 269920 257200 607616 272200) || Gene: “ASAH1, IDUA, HEXB, GBA, HEXA, GNS, LIPA, SGSH, GM2A, GNPTAB, NAGLU, HYAL1, SMPD1, LAMP2, NEU1, PSAP, ARSH, SLC17A5, IDS, ACP2, AGA, GUSB, ARSB, CTSA, ARSA, HGSNAT, MANBA, FUCA1, GAA, CTNS, NAGA, MCOLN1, GFAP, SUMF1, CHIT1, GALC, GALNS, GNPTG, NPC1, GLB1, NPC2, MAN2B1, GLA” (OMIM #: )

• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism